Épidémiologie et physiopathologie de la mucoviscidose

Epidemiology and physiopathology of cystic fibrosis Since the gene discovery in 1989, it has been shown that CFTR mutations are causing a cas- cade of cellular events leading to the expression of the symptoms of the disease. Development of therapeutic strategies to prevent clinical manifes- tations relies on research approaches to treat the origin of the disease (gene therapy and protein therapy) or to treat the symptoms. Improvement in care and clinical research organi- sation depend in part on the knowledge of the CF population's features. The French Registry (RFM) implemented in 1992, identified more than 4600 patients in 2005. Annual analyses indicate improve- ment in life expectancy at birth (46 years) together with an increase in the adult population ratio (40%). Concerning microbiology, if colonisation with Burkhol- deria cepacia and Streptococcus sp. (others than S. pneumoniae) are decreasing, a rise in Aspergil- /us, MRSA and Stenotrophomonas maltophilia is to deplore. Nevertheless increase in life expectancy goes with multiple complications of the disease and treatments applied from the moment of diagnostic are time consuming and compelling.